Varaico: Literature-Extracted Genetic Variants

Gene:EML6
Variant:p.A1539T
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EML6

NM_001039753.4:p.A1539T

Associated Papers

FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.

Yu SL et al.

Scientific Reports, 2020

32694622 (PubMed )
Supplement: 41598_2020_69059_MOESM2_ESM.xlsx › PuiBALL_with_purity_4_pp

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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